All variants in the WNT7A gene

Information The variants shown are described using the NM_004625.3 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. - c.610G>A r.(?) p.(Gly204Ser) - pathogenic (recessive) g.13860881C>T g.13819384C>T NM_004625.3:c.610G>A:p.(Gly204Ser) - WNT7A_000007 - PubMed: Maddirevula 2018 - - Germline - - - 0 - LOVD
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